Canonical Allele Identifier: CA359208766

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13776670A>C (hg19) ; chr5:g.13776561A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776561A>C , CM000667.2:g.13776561A>C	GRCh38
NC_000005.9:g.13776670A>C , CM000667.1:g.13776670A>C	GRCh37
NC_000005.8:g.13829670A>C	NCBI36
NG_013081.1:g.172920T>G
NG_013081.2:g.172920T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9251T>G MANE Select	ENSP00000265104.4:p.Ile3084Ser
ENST00000681290.1:c.9206T>G	ENSP00000505288.1:p.Ile3069Ser
ENST00000265104.4:c.9251T>G	ENSP00000265104.4:p.Ile3084Ser
NM_001369.2:c.9251T>G	NP_001360.1:p.Ile3084Ser
XM_005248262.2:c.9206T>G	XP_005248319.1:p.Ile3069Ser
XM_005248262.3:c.9359T>G	XP_005248319.2:p.Ile3120Ser
XM_017009177.1:c.9359T>G	XP_016864666.1:p.Ile3120Ser
XM_017009178.1:c.8264T>G	XP_016864667.1:p.Ile2755Ser
XM_017009179.2:c.8264T>G	XP_016864668.1:p.Ile2755Ser
XM_017009180.1:c.9359T>G	XP_016864669.1:p.Ile3120Ser
XM_017009181.1:c.9359T>G	XP_016864670.1:p.Ile3120Ser
XM_017009182.1:c.9359T>G	XP_016864671.1:p.Ile3120Ser
XM_017009183.1:c.9359T>G	XP_016864672.1:p.Ile3120Ser
XM_017009185.1:c.4448T>G	XP_016864674.1:p.Ile1483Ser
XM_017009186.1:c.4001T>G	XP_016864675.1:p.Ile1334Ser
XM_017009188.1:c.3338T>G	XP_016864677.1:p.Ile1113Ser
XM_024454388.1:c.8264T>G	XP_024310156.1:p.Ile2755Ser
XM_024454389.1:c.7853T>G	XP_024310157.1:p.Ile2618Ser
NM_001369.3:c.9251T>G MANE Select	NP_001360.1:p.Ile3084Ser